Works matching IS 00099163 AND DT 2021 AND VI 99 AND IP 1

Results: 20

Novel loss‐of‐function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 176, doi. 10.1111/cge.13866

By:

Zhang, Beibei;
Khan, Ihsan;
Liu, Chunyu;
Ma, Ao;
Khan, Asad;
Zhang, Yuanwei;
Zhang, Huan;
Kakakhel, Mian Basit Shah;
Zhou, Jianteng;
Zhang, Wen;
Li, Yang;
Ali, Asim;
Jiang, Xiaohua;
Murtaza, Ghulam;
Khan, Ranjha;
Zubair, Muhammad;
Yuan, Limin;
Khan, Mazhar;
Wang, Li;
Zhang, Feng

Publication type:

Article

Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 53, doi. 10.1111/cge.13865

By:

Beyens, Aude;
Boel, Annekatrien;
Symoens, Sofie;
Callewaert, Bert

Publication type:

Article

Feedback of extended panel sequencing in 1530 patients referred for suspicion of hereditary predisposition to adult cancers.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 166, doi. 10.1111/cge.13864

By:

Cavaillé, Mathias;
Uhrhammer, Nancy;
Privat, Maud;
Ponelle‐Chachuat, Flora;
Gay‐Bellile, Mathilde;
Lepage, Mathis;
Viala, Sandrine;
Bidet, Yannick;
Bignon, Yves‐Jean

Publication type:

Article

Genetic disorders with central nervous system white matter abnormalities: An update.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 119, doi. 10.1111/cge.13863

By:

Shukla, Anju;
Kaur, Parneet;
Narayanan, Dhanya Lakshmi;
do Rosario, Michelle C.;
Kadavigere, Rajagopal;
Girisha, Katta Mohan

Publication type:

Article

Identifying haplotypes in recessive inherited retinal dystrophies using whole‐genome linked‐read sequencing.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 193, doi. 10.1111/cge.13847

By:

Repo, Pauliina;
Järvinen, Reetta‐Stiina;
Sankila, Eeva‐Marja;
Paavo, Maarjaliis;
Ellonen, Pekka;
Kivelä, Tero T.;
Turunen, Joni A.

Publication type:

Article

Exploring genotype‐phenotype relationships in the CDKL5 deficiency disorder using an international dataset.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 157, doi. 10.1111/cge.13862

By:

MacKay, Conor I.;
Wong, Kingsley;
Demarest, Scott T.;
Benke, Tim A.;
Downs, Jenny;
Leonard, Helen

Publication type:

Article

Age of onset and behavioral manifestations in Huntington's disease: An Enroll‐HD cohort analysis.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 133, doi. 10.1111/cge.13857

By:

Ranganathan, Megha;
Kostyk, Sandra K.;
Allain, Dawn C.;
Race, Jonathan A.;
Daley, Allison M.

Publication type:

Article

Mutation analysis of tubulin beta 8 class VIII in infertile females with oocyte or embryonic defects.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 208, doi. 10.1111/cge.13855

By:

Yang, Ping;
Yin, Changjian;
Li, Mei;
Ma, Shuiying;
Cao, Yongzhi;
Zhang, Changming;
Chen, Tailai;
Zhao, Han

Publication type:

Article

QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 199, doi. 10.1111/cge.13853

By:

Föhrenbach, Melanie;
Jamra, Rami Abou;
Borkhardt, Arndt;
Brozou, Triantafyllia;
Muschke, Petra;
Popp, Bernt;
Rey, Linda K.;
Schaper, Jörg;
Surowy, Harald;
Zenker, Martin;
Zweier, Christiane;
Wieczorek, Dagmar;
Redler, Silke

Publication type:

Article

The evolution of the nosology of osteogenesis imperfecta.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 42, doi. 10.1111/cge.13846

By:

Chetty, Manogari;
Roomaney, Imaan Amina;
Beighton, Peter

Publication type:

Article

Precise variant interpretation, phenotype ascertainment, and genotype–phenotype correlation of children in the EARLY PRO‐TECT Alport trial.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 143, doi. 10.1111/cge.13861

By:

Boeckhaus, Jan;
Hoefele, Julia;
Riedhammer, Korbinian M.;
Tönshoff, Burkhard;
Ehren, Rasmus;
Pape, Lars;
Latta, Kay;
Fehrenbach, Henry;
Lange‐Sperandio, Baerbel;
Kettwig, Matthias;
Hoyer, Peter;
Staude, Hagen;
Konrad, Martin;
John, Ulrike;
Gellermann, Jutta;
Hoppe, Bernd;
Galiano, Matthias;
Gessner, Michaela;
Pohl, Michael;
Bergmann, Carsten

Publication type:

Article

Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 187, doi. 10.1111/cge.13845

By:

Beheshtian, Maryam;
Akhtarkhavari, Tara;
Mehvari, Sepideh;
Mohseni, Marzieh;
Fattahi, Zohreh;
Abedini, Seyedeh Sedigheh;
Arzhangi, Sanaz;
Fadaee, Mahsa;
Jamali, Payman;
Najafipour, Reza;
Kalscheuer, Vera M.;
Hu, Hao;
Ropers, Hans‐Hilger;
Najmabadi, Hossein;
Kahrizi, Kimia

Publication type:

Article

Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine‐5′‐phosphate oxidase deficiency.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 99, doi. 10.1111/cge.13843

By:

Alghamdi, Malak;
Bashiri, Fahad A.;
Abdelhakim, Marwa;
Adly, Nouran;
Jamjoom, Dima Z.;
Sumaily, Khalid M.;
Alghanem, Bandar;
Arold, Stefan T.

Publication type:

Article

Premature aging disorders: A clinical and genetic compendium.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 3, doi. 10.1111/cge.13837

By:

Schnabel, Franziska;
Kornak, Uwe;
Wollnik, Bernd

Publication type:

Article

Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 111, doi. 10.1111/cge.13829

By:

Naseri, Nima;
Sharma, Manu;
Velinov, Milen

Publication type:

Article

Ethical questions concerning newborn genetic screening.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 93, doi. 10.1111/cge.13828

By:

Esquerda, Montserrat;
Palau, Francesc;
Lorenzo, David;
Cambra, Francisco Jose;
Bofarull, Margarita;
Cusi, Victoria;
Interdisciplinar en Bioetica, Grup

Publication type:

Article

The role of long non‐coding RNAs in drug resistance of cancer.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 84, doi. 10.1111/cge.13800

By:

Zhang, He‐da;
Jiang, Lin‐hong;
Zhong, Shan‐liang;
Li, Jian;
Sun, Da‐wei;
Hou, Jun‐chen;
Wang, Dan‐dan;
Zhou, Si‐ying;
Tang, Jin‐hai

Publication type:

Article

Gene editing technology for improving life quality: A dream coming true?

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 67, doi. 10.1111/cge.13794

By:

Ramezankhani, Roya;
Minaei, Neda;
Haddadi, Mahnaz;
Torabi, Shukoofeh;
Hesaraki, Mahdi;
Mirzaei, Hamed;
Vosough, Massoud;
Verfaillie, Catherine M.

Publication type:

Article

Genotype‐phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 29, doi. 10.1111/cge.13792

By:

Mariath, Luiza Monteavaro;
Santin, Juliana Tosetto;
Frantz, Jeanine Aparecida;
Doriqui, Maria Juliana Rodovalho;
Schuler‐Faccini, Lavínia;
Kiszewski, Ana Elisa

Publication type:

Article

Issue Information.

Published in:: Clinical Genetics, 2021, v. 99, n. 1, p. 1, doi. 10.1111/cge.13777
Publication type:: Article